SynthesisBrain : a journal of neurology2013
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Synthesis in Brain : a journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
88 citing papers in PubMed, 5 syntheses or guidelines pooled it, 196 citations in OpenAlex.
- Genome-wide association meta-analyses of drug-resistant epilepsy.EBioMedicine · 2025Pooled it
- Prophylactic drug management for febrile seizures in children.The Cochrane database of systematic reviews · 2021Pooled it
- Prophylactic drug management for febrile seizures in children.The Cochrane database of systematic reviews · 2017Pooled it
- Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.The Lancet. Neurology · 2014Pooled it
- Febrile seizures.BMJ clinical evidence · 2014Pooled it
- Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.PloS one · 2016Trial
- Spatiotemporal dynamics of seizure networks: Progressive posterior hippocampal recruitment in mesial temporal lobe epilepsy.Epilepsia · 2026Article
- Associations between epilepsy-related polygenic risk and brain morphology in childhood.Brain : a journal of neurology · 2026Article
- Article
- Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes.Brain : a journal of neurology · 2025Article
- Seizure Burden and Clinical Risk Factors in Glioma-Related Epilepsy: Insights From MRI Voxel-Based Lesion-Symptom Mapping.Journal of magnetic resonance imaging : JMRI · 2025Article
- Article
- Epilepsy and migraine: a diagnostic and therapeutic challenge.Frontiers in pharmacology · 2025Review
- Case Report: Anti-SOX1 antibody-associated limbic encephalitis with hippocampal sclerosis: the first autopsy case.Frontiers in immunology · 2025Article
- Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.Journal of neurochemistry · 2024Review
- DHDDS-related epilepsy with hippocampal atrophy: a case report.Neurogenetics · 2024Article
- Mesial temporal sclerosis and epilepsy: a narrative review.Acta epileptologica · 2024Review
- Best practices for the management of febrile seizures in children.Italian journal of pediatrics · 2024Review
- Migraine - a borderland disease to epilepsy: near it but not of it.The journal of headache and pain · 2024Review
- Seizing the Connection: Exploring the Interplay Between Epilepsy and Glycemic Control in Diabetes Management.Cureus · 2023Review
28 more citing papers are in PubMed but not listed here.
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Authors and funding
72 authors at 20 institutions in 13 countries.
Funding
Abstract
Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association study in 1018 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 7552 control subjects, with validation in an independent sample set comprising 959 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 3591 control subjects. To dissect out variants related to a history of febrile seizures, we tested cases with mesial temporal lobe epilepsy with hippocampal sclerosis with (overall n = 757) and without (overall n = 803) a history of febrile seizures. Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. In a cohort of 172 individuals with febrile seizures, who did not develop epilepsy during prospective follow-up to age 13 years, and 6456 controls, no association was found for rs7587026 and febrile seizures. These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febrile seizures.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.